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Loss of vision is untreatable and there are no suitable animal models for testing therapeutic strategies of the ocular constituent of USH, so far. By introducing a human mutation into the harmonin\u2010encoding\n                    <jats:italic>USH1C<\/jats:italic>\n                    gene in pigs, we generated the first translational animal model for USH type 1 with characteristic hearing defect, vestibular dysfunction, and visual impairment. Changes in photoreceptor architecture, quantitative motion analysis, and electroretinography were characteristics of the reduced retinal virtue in USH1C pigs. Fibroblasts from USH1C pigs or USH1C patients showed significantly elongated primary cilia, confirming USH as a true and general ciliopathy. Primary cells also proved their capacity for assessing the therapeutic potential of CRISPR\/Cas\u2010mediated gene repair or gene therapy\n                    <jats:italic>in\u00a0vitro<\/jats:italic>\n                    . AAV\u2010based delivery of harmonin into the eye of USH1C pigs indicated therapeutic efficacy\n                    <jats:italic>in\u00a0vivo<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.15252\/emmm.202114817","type":"journal-article","created":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T09:59:38Z","timestamp":1646647178000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes"],"prefix":"10.1038","volume":"14","author":[{"given":"Sophia","family":"Grotz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Sch\u00e4fer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten 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